Fabry disease and kidney involvement: starting from childhood to understand the future

Chimenz, Roberto; Chirico, Valeria; Cuppari, Caterina; Ceravolo, G; Concolino, Daniela; Monardo, Paolo; Lacquaniti, Antonio

doi:10.1007/s00467-021-05076-x

Cited by 16 publications

(18 citation statements)

References 80 publications

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“…The main cause of death in Fabry patients is cardiovascular disease, followed by cerebrovascular manifestations, with kidney failure or end-stage renal disease (ESRD) being the third most common cause of mortality. Furthermore, chronic kidney disease (CKD) is the main cause of kidney failure in untreated patients with the late-onset or classical type of Fabry ( 6 ). The earliest sign of Fabry nephropathy is proteinuria, which is the most significant existing biomarker for progressive decline in GFR ( 68 ).…”

Section: Renal Involvementmentioning

confidence: 99%

“…Subclinical kidney damage appears during childhood and is associated with pathological albuminuria. CKD frequently affects adolescents and adults and is associated with a progressive decline of GFR ( 6 ). Increased levels of albuminuria and proteinuria, and a worsening in GFR indicate permanent nephron destruction, in glomerular as well as tubular regions, where interstitial fibrosis, glomerular and arteriolar sclerosis, besides tubular atrophy results in kidney injury ( 6 ).…”

Section: Renal Involvementmentioning

confidence: 99%

“…Albuminuria is the most common clinical sign of renal involvement in patients with Fabry disease, often preceding a detectable loss of kidney function, and is related to glomerular and podocyte injuries ( 6 , 97 , 100 , 105 ). Albuminuria is not a sensitive biomarker for early kidney damage as it did not discover subclinical phases, as it is detectable only if glomerular podocyte damage is present ( 6 ). The kidney biopsy revealed the presence of advanced kidney lesions in Fabry patients despite normal levels of albuminuria ( 80 ).…”

Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

“…Even if a severe phenotype is more frequent in males vs. females, heterozygous women may also exhibit symptoms of varying severity depending on random inactivation of one of the two X chromosomes. The result of a random X chromosome inactivation is represented by a mosaic of cell populations, leading to variable phenotypes from asymptomatic to severely symptomatic heterozygous females ( 6 ).…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

et al. 2022

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Inherited renal diseases represent 20% of the causes of end-stage renal diseases. Fabry disease, an X-linked lysosomal storage disorder, results from α-galactosidase A deficient or absent activity followed by globotriaosylceramide (Gb3) accumulation and multiorgan involvement. In Fabry disease, kidney involvement starts early, during intrauterine life by the Gb3 deposition. Even if chronic kidney disease (CKD) is discovered later in adult life in Fabry disease patients, a decline in glomerular filtration rate (GFR) can occur during adolescence. The first clinical sign of kidney involvement is represented by albuminuria. So, early and close monitoring of kidneys function is required: albuminuria and proteinuria, urinary albumin-to-creatinine ratio, serum creatinine, or cystatin C to estimate GFR, while urinary sediment with phase-contrast microscopy under polarized light may be useful in those cases where leucocyte α-Gal A activity and GLA genotyping are not available. Children with Fabry disease and kidney involvement should receive enzyme replacement therapy and nephroprotective drugs (angiotensin-converting enzyme inhibitors or angiotensin receptor blockers) to prevent or slow the progressive loss of kidney functions. Early diagnosis of Fabry disease is important as enzyme replacement therapy reduces symptoms, improves clinical features and biochemical markers, and the quality of life. More importantly, early treatment could slow or stop progressive organ damage in later life.

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Section: Renal Involvementmentioning

confidence: 99%

Section: Renal Involvementmentioning

confidence: 99%

Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

et al. 2022

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“…We found that PEMF treatment prevented and/or delayed multiple organ damage in the liver, lungs, kidneys, and spleen, indicating that PEMF prevented systemic organ failure triggered by LPS-induced septic shock in mice. Further analysis of relevant genes such as globotriaosylceramide (Gb-3), high mobility group box 1 (HMGB1), and transforming growth factor beta (TGF-β) would be helpful to understand the extent of histological damage [ 48 , 49 ].…”

Section: Discussionmentioning

confidence: 99%

Pulsed Electromagnetic Field (PEMF) Treatment Reduces Lipopolysaccharide-Induced Septic Shock in Mice

Lee

Park

Hwang

et al. 2022

IJMS

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Despite advances in medicine, mortality due to sepsis has not decreased. Pulsed electromagnetic field (PEMF) therapy is emerging as an alternative treatment in many inflammation-related diseases. However, there are few studies on the application of PEMF therapy to sepsis. In the current study, we examined the effect of PEMF therapy on a mouse model of lipopolysaccharide (LPS)-induced septic shock. Mice injected with LPS and treated with PEMF showed higher survival rates compared with the LPS group. The increased survival was correlated with decreased levels of pro-inflammatory cytokine mRNA expression and lower serum nitric oxide levels and nitric oxide synthase 2 mRNA expression in the liver compared with the LPS group. In the PEMF + LPS group, there was less organ damage in the liver, lungs, spleen, and kidneys compared to the LPS group. To identify potential gene targets of PEMF treatment, microarray analysis was performed, and the results showed that 136 genes were up-regulated, and 267 genes were down-regulated in the PEMF + LPS group compared to the LPS group. These results suggest that PEMF treatment can dramatically decrease septic shock through the reduction of pro-inflammatory cytokine gene expression. In a clinical setting, PEMF may provide a beneficial effect for patients with bacteria-induced sepsis and reduce septic shock-induced mortality.

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Fabry Nephropathy

Vaisbich

Andrade

Silva³

et al. 2023

Amyloidosis and Fabry Disease

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Fabry disease and kidney involvement: starting from childhood to understand the future

Cited by 16 publications

References 80 publications

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

Pulsed Electromagnetic Field (PEMF) Treatment Reduces Lipopolysaccharide-Induced Septic Shock in Mice

Fabry Nephropathy

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